IthaID: 3719
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | Init CD ATG>ACG [Met>Thr] | HGVS Name: | HBA1:c.2T>C |
Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CCCACAGACTCAGAGAGAACCCACCA [T/C] GGTGCTGTCTCCTGCCGACAAGACCA (Strand: +)
Protein sequence:
TVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a 37-year old Chinese woman presented with slightly reduced Hb 10.4 g/dL, MCV 77.2 fL and MCH 25.7 pg.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
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Hemoglobinopathy Subgroup: | α-thalassaemia |
Allele Phenotype: | α⁺ |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
---|---|
Locus: | NG_000006.1 |
Locus Location: | 37581 |
Size: | 1 bp |
Located at: | α1 |
Specific Location: | Exon 1 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | Initiation codon (Translation) |
Ethnic Origin: | Chinese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Zhang H, Li C, Li J, Hou S, Chen D, Yan H, Chen S, Liu S, Yin Z, Yang X, Tan J, Huang X, Zhang L, Fang J, Zhang C, Li W, Guo J, Lei D, Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China., J Clin Lab Anal, 33(4), e22845, 2019 PubMed
Created on 2021-01-30 14:42:24,
Last reviewed on 2023-07-03 10:09:54 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2021-01-30 14:42:24 | The IthaGenes Curation Team | Created |
2 | 2021-01-30 14:44:12 | The IthaGenes Curation Team | Reviewed. Comment corrected. |
3 | 2021-02-01 11:31:26 | The IthaGenes Curation Team | Reviewed. Protein sequence added. |
4 | 2023-07-03 10:09:54 | The IthaGenes Curation Team | Reviewed. Effect revised |
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IthaGenes was last updated on 2024-09-28 12:00:32